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Errors in protein synthesis are thought to be rare, yet cells representing the diversity of life tolerate greatly elevated levels of error. One source of translation error in humans are anticodon mutations in transfer RNAs (tRNAs). We found a tRNA Ser AGA -2-3 variant (G35A) that occurs in 2% of the...
ORGANISM(S): Homo sapiens (Human) 
2026-02-23 | PXD064886 | Pride
Autism spectrum disorder (ASD) is a common, highly heritable neurodevelopmental condition characterized by marked genetic heterogeneity. Thus, a fundamental question is whether autism represents an aetiologically heterogeneous disorder in which the myriad genetic or environmental risk factors pertur...
ORGANISM(S): Homo sapiens 
Nonsense mutations generate premature termination codons (PTCs) that are responsible for 11% of human genetic disease alleles. Thus, nonsense suppressor tRNAs have broad therapeutic potential. Humans encode > 600 tRNA genes with many identical or similar copies of each tRNA. We hypothesized that tRN...
ORGANISM(S): Homo sapiens (Human) 
2025-07-25 | PXD056053 | Pride
Explore protein binding partners of novel tRNA (tRNA-Asp-GTC-3'tDR) in HEK293 cells via IP followed by mass spectrometry.
ORGANISM(S): Homo sapiens (Human) 
2025-08-08 | PXD052235 | Pride
More than 50% of patients with chondrosarcomas exhibit gain-of-function mutations in either isocitrate dehydrogenase 1 (IDH1) or IDH2. In this study, we performed genome-wide CpG methylation sequencing of chondrosarcoma biopsies and found that IDH mutations were associated with DNA hypermethylation ...
ORGANISM(S): Homo sapiens 
Smoking of combustible cigarettes has a major impact on human health. Using a systems toxicology approach in a model of chronic obstructive pulmonary disease (C57BL/6 mice), we assessed the health consequences in mice of smoke derived from a prototype modified risk tobacco product (pMRTP) as compare...
2015-11-19 | MTBLS143 | MetaboLights
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